Publications

Journal Articles

  1. & Validating epilepsy diagnosis in routinely collected data. Seizure
  2. et. al. Phenotypic analysis of 303 multiplex families with common epilepsies. Brain 140(8), 2144-2156.
  3. & Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. Brain and Development 39(4), 306-311.
  4. & Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 16(2), 135-143.
  5. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics 99(2), 287-298.
  6. & Complement is activated in progressive multiple sclerosis cortical grey matter lesions. Journal of Neuroinflammation 13(1)
  7. et. al. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17(1)
  8. et. al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine 2(9), 1063-1070.
  9. & Ethnicity can predict GLRA1 genotypes in hyperekplexia. Journal of Neurology, Neurosurgery & Psychiatry 86(3), 341-343.
  10. & Epilepsy and deprivation, a data linkage study. Epilepsia 56(4), 585-591.
  11. & A Novel LGI1 Variant in Lateral Temporal Lobe Epilepsy. Journal of Neurology, Neurosurgery & Psychiatry 86, 154
  12. & Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Human Molecular Genetics 24(18), 5313-5325.
  13. & Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.. Epileptic Disorders 16(3), 354-357.
  14. & Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010. Seizure 23(1), 77-80.
  15. & A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease 64, 131-141.
  16. & De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy. The American Journal of Human Genetics 94(4), 634-641.
  17. & Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy. Epilepsy & Behavior 35, 72-77.
  18. et. al. A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy. Epilepsy & Behavior 36, 124-129.
  19. & Fractures in people with a diagnosis of Epilepsy : A population based study.
  20. FACTORS ASSOCIATED WITH EMERGENCY ATTENDANCES FOR EPILEPSY. Journal of Neurology, Neurosurgery & Psychiatry 85(10), e4.187-e4.
  21. et. al. New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms. Journal of Biological Chemistry 288(47), 33745-33759.
  22. & Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52, 137-149.
  23. & Weight change associated with antiepileptic drugs. Journal of Neurology, Neurosurgery & Psychiatry 84(7), 796-799.
  24. & Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men. GLIA 61(2), 273-286.
  25. & Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy. Epilepsy & Behavior
  26. & Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. BRAIN 136(2), 536-548.
  27. & GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics 22(5), 927-940.
  28. & Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. BRAIN 136(10), 3085-3095.
  29. & Ghrelin inhibits LPS-induced release of IL-6 from mouse dopaminergic neurones. Journal of Neuroinflammation 10(1), 40-46.
  30. & Flow-induced ATP release in patient-specific arterial geometries - a comparative study of computational models. International Journal for Numerical Methods in Biomedical Engineering 29(10), 1038-1056.
  31. Preface of Editor. Challenges and Opportunities of Next-Generation Sequencing for Biomedical Research 89, vii-ix.
  32. & A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2. Journal of Biological Chemistry 287(34), 28986-29002.
  33. Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease. Journal of Biological Chemistry 287(34), 28975-28985.
  34. & Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. Journal of Neurology, Neurosurgery & Psychiatry 83(3), 336-338.
  35. & Next Generation Sequencing Methodologies - An Overview. Challenges and Opportunities of Next-Generation Sequencing for Biomedical Research 89, 1-26.
  36. & Sudden Unexpected Death in Epilepsy Following Status Epilepticus. Journal of Neurology, Neurosurgery & Psychiatry 83, 38-39.
  37. & Alice in Wonderland Syndrome: Epilepsy, Migraine or Both?. Annals of Neurology 72, 89-90.
  38. & The Risk of Seizures in Progressive Multiple Sclerosis. Epilepsia 53, 24-25.
  39. & Symptoms and Signs Associated with Syncope in Young People with Primary Cardiac Arrhythmias. Heart, Lung and Circulation 20(9), 593-598.
  40. & Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiology of Disease 43(1), 184-189.
  41. & Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: A marker of severe KCNQ1 dysfunction?. Heart Rhythm 8(4), 551-554.
  42. & Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm 7(4), 481-486.
  43. & Identifying and prioritising epilepsy treatment uncertainties. Journal of Neurology, Neurosurgery & Psychiatry 81(8), 918-921.
  44. et. al. Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. Journal of Neuroscience 30(28), 9612-9620.
  45. & An ovine transgenic Huntington's disease model. Human Molecular Genetics 19(10), 1873-1882.
  46. & TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19(14), 2817-2827.
  47. & Implications for families of advances in understanding the genetic basis of epilepsy. Seizure 19(10), 675-679.
  48. The genetics of epilepsy—The past, the present and future. Seizure 19(10), 680-683.
  49. & The glycinergic system in human startle disease: a genetic screening approach. Frontiers in Molecular Neuroscience 3, 8-16.
  50. & Differential localization of γ-aminobutyric acid type a and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: An immunohistochemical study. The Journal of Comparative Neurology 518(3), 305-328.
  51. & Optimized sample preparation for high-resolution AFM characterization of fixed human cells. Journal of Microscopy 240(2), 111-121.
  52. Genetic epilepsy with febrile seizures plus phenotypes of definite and borderline UK families. Journal of Neurology, Neurosurgery & Psychiatry 81(11), e48-e48.
  53. & Hyperekplexia: Stiffness, startle and syncope. Journal of Paediatric Neurology 8(1), 11-14.
  54. & Genetic Advances in Epilepsy. Epilepsy Professional 14, 10-14.
  55. & Localisation of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review. Frontiers in Molecular Neuroscience 2(25), 1-11.
  56. Bench to Bedside: The Fist Molecular Epilepsy Outcomes from the Wales Epilepsy Research Network with a novel GABRG2 Mutation in an Epilepsy Family. Journal of Neurology, Neurosurgery & Psychiatry 80(11), 3-4.
  57. & Not All hERG Pore Domain Mutations Have a Severe Phenotype: G584S Has an Inactivation Gating Defect with Mild Phenotype Compared to G572S, Which Has a Dominant Negative Trafficking Defect and a Severe Phenotype. Journal of Cardiovascular Electrophysiology 20(8), 923-930.
  58. & Epilepsy genetics: clinical beginnings and social consequences. Quaternary Journal of Medicine 102(7), 497-499.
  59. & Biophysical Properties of 9 KCNQ1 Mutations Associated With Long-QT Syndrome. Circulation: Arrhythmia and Electrophysiology 2(4), 417-426.
  60. & Misdiagnosis and delayed recognition of long-QT syndrome frequency, contributing factors and consequences. Annals of Emergency Medicine 54(1), 26-32.
  61. & Differential Localisation of GABAA receptor subunits within the substantia nigra of the human brain: an immmunohisotochemical study. Journal of Comparative Neurology 506(6), 912-929.
  62. & A critical role for glycine transporters in hyperexcitability disorders. Frontiers in Molecular Neuroscience 1(1), 1-6.
  63. & Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm 5(9), 1275-1281.
  64. & The genetics of hyperekplexia: more than startle!. Trends in Genetics 24(9), 439-447.
  65. & Coinheritance of long QT syndrome and Kearns-Sayre syndrome.. Heart Rhythm 4(12), 1568-1572.
  66. & Sox-2 is expressed by glial cells and Pax6 is expressed by migratory progenitor cells in the human subventricular zone. Experimental Neurology 204(2), 828-831.
  67. & Brugada Syndrome masquerading as febrile seizures. Pediatrics 119(5), 1-6.
  68. & Glycine receptors in the Striatum, Globus pallidus, and substantia nigra of the human brain: an immunohisotochemical study. Journal of Comparative Neurology 502(6), 1012-1029.
  69. & PICK1 interacts with α7-neuronal nicotinic acetylcholine receptors and controls their clustering. Molecular and Cellular Neuroscience 35(2), 339-355.
  70. & Long-QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm 4(10), 1306-1314.
  71. & The Wales Epilepsy Research Network. The Welsh Pediatric Journal 26, 28-31.
  72. The Conundrum of Complexity in Epilepsy. Lancet Neurology 6(11), 943-944.
  73. Advances in the Genetic Understanding of Epilepsy. Learning Disability and Epilepsy Reviews 2, 2-5.
  74. & Gene Tests for Hyperekplexia. Gene Tests
  75. & QT interval prolongation associated with sibutramine treatment. British Journal of Clinical Pharmacology 61(4), 464-469.
  76. & Functional variants of anti-oxidant genes in smokers with and without impaired lung function. Thorax 61(5), 394-399.
  77. & Immunohistochemical and immunocytochemical analysis of post-mortem human brain. Nature Protocols 1(6), 2719-2732.
  78. & Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics 38(7), 801-806.
  79. & Near-Miss SIDS due to Brugada Syndrome. Archives of Disease in Childhood 90(5), 528-529.
  80. & Harris Syndrome – a geographical perspective. Journal of Thrombosis and Hemostasis 3, 2581-2582.
  81. & The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering. Journal of Neuroscience 24(25), 5816-5826.
  82. & TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease. Molecular Brain Research 125(1-2), 120-128.
  83. & Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia. Journal of Biological Chemistry 278(27), 24688-24696.
  84. & Distribution of the anchoring protein gephyrin in human brain: an immunohistochemical analysis. Neuroscience 116(1), 145-156.
  85. & Cellular expression of expanded variable repeat length CAG repeats of the TATA binding protein. Neurobiology of Disease 13(1), 37-45.
  86. & Association of gephyrin and glycine receptors in the human brainstem and spinal cord: An immunohistochemical analysis. Neuroscience 122(3), 773-784.
  87. & GABAA receptor subunit and gephyrin protein changes differ in the globus pallidus in Huntington's diseased brain. Brain Research 994(2), 265-270.
  88. & Characterisation, mutation detection, and association analysis of alternative promoters and 5’UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular Psychiatry 7(5), 493-502.
  89. & Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Human Molecular Genetics 11(7), 853-860.
  90. & Chromosome 2 interstitial deletion (del (2) (q14.1q21) in a patient associated with connective tissue laxity and an attention deficit disorder. Journal of Medical Genetics; 38(7), 493-496.
  91. & A genomewide linkage study of age at onset in schizophrenia. American Journal of Medical Genetics 105(5), 439-445.
  92. & Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia. Human Genetics 109(3), 267-270.
  93. & Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CPZ3) and a novel mutation in connexin 46 (GJA3). Human Genetics 106(2), 206-209.
  94. & An unusual case of hyperekplexia (a case study). European Journal of Paediatric Neurology 4(2), 77-80.
  95. & Linkage analysis in an autosomal dominant 'zonular nuclear pulverulent' congenital cataract, mapped to chromosome 13q11-13. Eye 14(2), 172-175.
  96. & Genomic structure of postsynaptic organizational protein, Gephyrin, and mutation analysis in hyperekplexia and startle phenotypes. American Journal of Human Genetics 67(4), 385-386.
  97. & Genome Search for the Schizophrenia Susceptibility Genes in Multiply Affected Families. Molecular Psychiatry 4(4), 353-360.
  98. & Genome search for schizophrenia susceptibility genes using a two-stage sib-pair approach. Human Molecular Genetics 8(9), 1729-1739.
  99. & Bipolar disorder and the serotonin transporter gene: a family based association study. Psychological Medicine 29(5), 1249-1254.
  100. & An affected sib pair study for schizophrenia on the X chromosome. American Journal of Medical Genetics 81(6), 529-530.
  101. & Association between bipolar disorder and the VNTR polymorphism in intron 2 of the human serotonin transporter gene (hSERT). Psychiatric Genetics 6(3), 147-148.
  102. & Association studies of bipolar disorder at the serotonin transporter gene (hSERT;5HTT). Molecular Psychiatry 2(5), 398-402.
  103. et. al. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study. American Journal of Medical Genetics B 67(6), 580-594.
  104. & No evidence for allelic association between bipolar disorder and monoamine-oxidase A gene polymorphisms. American Journal of Medical Genetics B 60(4), 322-324.
  105. & Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21).. British Journal of Haematology 87(2), 386-395.
  106. & Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Human Molecular Genetics 3(12), 2175-2179.
  107. & Red Cell Dimorphism: Identification of two populations of reticulocytes using the H*3 analyser. Autoanalyst 3(4)

Book Chapters

  1. & Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling. In Advances in Protein Chemistry and Structural Biology. (pp. 117-152).
  2. & Molecular Genetics of Arrhythmias. In Clinical Cardiovascular Genetics. Oxford University Press..
  3. & The Cellular Localisation of GABAA and Glycine Receptors in the Human Basal Ganglia. In Advances in Behavioural Biology - IBAGS IX. (pp. 225-237). Springer.